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cystic fibrosis
- Question
- The genetic tests, which we've done both did not find any mutation for cystic fibrosis, although our child died because of this disease; was only detected 7T polymorphism both of us. We want a healthy baby, what we have to do?
- Answer
- The data that has been provided is insufficient for a concrete answer.
The 7 T polymorphism has no proven pathological implications. The result depends on the kit used for genetic tests and the number of mutations searched. If the genetic tests are negative with conventional kits, gene sequencing can be recommended. Sequencing is a complex and expensive investigation, which is performed in special, well documented cases. This can be done in specialized genetic laboratories in Europe. If other mutations will be detected, the prenatal genetic diagnosis could be performed, in the case of a pregnancy. Hoping that my answer was helpful,
Sincerely , Prof.Dr. Liviu Pop
- 03.11.2011
